Phenotype #0000236403

Individual ID 00311148
Associated disease CAKUT
Phenotype details renal ultrasound bilateral malrotated kidneys and the right is low lying; dysmorphic facial features (narrow palpebral fissures, epicanthi and telecanthus, small nose and a grooved single philtrum with mild hypoplastic nasal nares), short, thick fingers, increased range of motion joints; developmental delay, speech delay, hypotonia
Diagnosis/Initial CAKUT
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-09-19 17:29:02 +02:00 (CEST)
Date last edited 2020-09-19 20:54:46 +02:00 (CEST)

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